A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470180



Internal ID247949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21587001..21720202hg38UCSC Ensembl
chr5:21587110..21720311hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38133202
hg19133202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965123
Samples
Known GenesGUSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470180
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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